BLM NP_000048.1:p.Y736fs*4

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the amino acid sequence of Bloom syndrome protein where a frameshift mutation results in the replacement of a tyrosine residue at position 736 with 3 non-canonic amino acids followed by a stop codon.

**Synonyms:** - BLM NP_000048.1:p.Tyr736fs*4 - BLM Tyr736fs*4 - BLM Y736fs*4 - BLM p.Tyr736fs*4 - BLM p.Y736fs*4 - BLM(Ash) Protein - Bloom Syndrome Protein Tyr736fs*4 - Bloom Syndrome Protein Y736fs*4 - DNA Helicase, RecQ-Like Type 2 Tyr736fs*4 - DNA Helicase, RecQ-Like Type 2 Y736fs*4 - NP_000048.1:p.Tyr736fs*4 - NP_000048.1:p.Y736fs*4 - RecQ Protein-Like 3 Tyr736fs*4 - RecQ Protein-Like 3 Y736fs*4 - RecQ2 Tyr736fs*4 - RecQ2 Y736fs*4 - blmAsh Protein